Canonical Allele Identifier: CA4052594

Gene: SYNE1 ESR1

Linked Data

• ClinVar Variation Id: 962272
• ClinVar RCV Id: RCV001236099 ; RCV003482352
• dbSNP Id: rs747635401
• ExAC: 6:152443686 C / T
• gnomAD v2: 6-152443686-C-T
• gnomAD v3: 6-152122551-C-T
• gnomAD v4: 6-152122551-C-T
• MyVariant Identifiers: chr6:g.152443686C>T (hg19) ; chr6:g.152122551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122551C>T , CM000668.2:g.152122551C>T	GRCh38
NC_000006.11:g.152443686C>T , CM000668.1:g.152443686C>T	GRCh37
NC_000006.10:g.152485379C>T	NCBI36
NG_012855.1:g.519849G>A
NG_008493.2:g.470861C>T
NG_012855.2:g.519849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2813G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gly938Glu
ENST00000367255.10:c.26279G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Gly8760Glu
ENST00000423061.6:c.26135G>A (SYNE1)	ENSP00000396024.1:p.Gly8712Glu
ENST00000672154.1:c.1622G>A (SYNE1)
ENST00000672169.1:c.1997G>A (SYNE1)
ENST00000673173.1:c.1864G>A (SYNE1)
ENST00000673451.1:c.2129G>A (SYNE1)	ENSP00000500189.1:n.2129G>A
ENST00000341594.9:c.25064G>A (SYNE1)	ENSP00000341887.6:p.Gly8355Glu
ENST00000347037.9:n.3027G>A (SYNE1)
ENST00000354674.4:c.2813G>A (SYNE1)	ENSP00000346701.4:p.Gly938Glu
ENST00000367251.7:c.5055G>A (SYNE1)	ENSP00000356220.3:n.5055G>A
ENST00000367255.9:c.26279G>A (SYNE1)	ENSP00000356224.5:p.Gly8760Glu
ENST00000367256.9:n.9971G>A (SYNE1)
ENST00000367257.8:c.4158G>A (SYNE1)	ENSP00000356226.4:n.4158G>A
ENST00000409694.6:n.9863G>A (SYNE1)
ENST00000423061.5:c.26135G>A (SYNE1)	ENSP00000396024.1:p.Gly8712Glu
ENST00000427531.6:c.851-2715C>T (ESR1)	ENSP00000394721.2:n.851-2715C>T
ENST00000460912.6:n.2893G>A (SYNE1)
ENST00000478916.5:n.6916G>A (SYNE1)
ENST00000539504.5:c.2744G>A (SYNE1)	ENSP00000441052.1:p.Gly915Glu
NM_033071.3:c.26135G>A (SYNE1)	NP_149062.1:p.Gly8712Glu
NM_182961.3:c.26279G>A (SYNE1)	NP_892006.3:p.Gly8760Glu
XM_006715407.1:c.26426G>A (SYNE1)	XP_006715470.1:p.Gly8809Glu
XM_006715408.1:c.26414G>A (SYNE1)	XP_006715471.1:p.Gly8805Glu
XM_006715409.1:c.26405G>A (SYNE1)	XP_006715472.1:p.Gly8802Glu
XM_006715410.1:c.26384G>A (SYNE1)	XP_006715473.1:p.Gly8795Glu
XM_006715411.1:c.26375G>A (SYNE1)	XP_006715474.1:p.Gly8792Glu
XM_006715412.1:c.26369G>A (SYNE1)	XP_006715475.1:p.Gly8790Glu
XM_006715413.1:c.26357G>A (SYNE1)	XP_006715476.1:p.Gly8786Glu
XM_006715414.1:c.26354G>A (SYNE1)	XP_006715477.1:p.Gly8785Glu
XM_006715415.1:c.26315G>A (SYNE1)	XP_006715478.1:p.Gly8772Glu
XM_006715416.1:c.26300G>A (SYNE1)	XP_006715479.1:p.Gly8767Glu
XM_006715417.1:c.26285G>A (SYNE1)	XP_006715480.1:p.Gly8762Glu
XM_006715420.1:c.26273G>A (SYNE1)	XP_006715483.1:p.Gly8758Glu
XM_006715421.1:c.26270G>A (SYNE1)	XP_006715484.1:p.Gly8757Glu
XM_006715422.1:c.26267G>A (SYNE1)	XP_006715485.1:p.Gly8756Glu
XM_006715423.1:c.*90G>A (SYNE1)	XP_006715486.1:n.*90G>A
XM_006715424.1:c.*90G>A (SYNE1)	XP_006715487.1:n.*90G>A
XM_006715425.1:c.*90G>A (SYNE1)	XP_006715488.1:n.*90G>A
XM_011535641.1:c.26423G>A (SYNE1)	XP_011533943.1:p.Gly8808Glu
XM_011535642.1:c.26411G>A (SYNE1)	XP_011533944.1:p.Gly8804Glu
XM_011535643.1:c.26261G>A (SYNE1)	XP_011533945.1:p.Gly8754Glu
XM_011535644.1:c.24701G>A (SYNE1)	XP_011533946.1:p.Gly8234Glu
XM_011535645.1:c.24194G>A (SYNE1)	XP_011533947.1:p.Gly8065Glu
XM_011535647.1:c.19661G>A (SYNE1)	XP_011533949.1:p.Gly6554Glu
NM_001328100.1:c.851-2715C>T (ESR1)	NP_001315029.1:n.851-2715C>T
NM_001347701.1:c.*90G>A (SYNE1)	NP_001334630.1:n.*90G>A
NM_001347702.1:c.2813G>A (SYNE1)	NP_001334631.1:p.Gly938Glu
XM_006715408.2:c.26414G>A (SYNE1)	XP_006715471.1:p.Gly8805Glu
XM_006715410.2:c.26384G>A (SYNE1)	XP_006715473.1:p.Gly8795Glu
XM_006715412.2:c.26369G>A (SYNE1)	XP_006715475.1:p.Gly8790Glu
XM_006715413.2:c.26357G>A (SYNE1)	XP_006715476.1:p.Gly8786Glu
XM_006715415.2:c.26315G>A (SYNE1)	XP_006715478.1:p.Gly8772Glu
XM_006715416.2:c.26300G>A (SYNE1)	XP_006715479.1:p.Gly8767Glu
XM_006715417.2:c.26285G>A (SYNE1)	XP_006715480.1:p.Gly8762Glu
XM_006715420.2:c.26273G>A (SYNE1)	XP_006715483.1:p.Gly8758Glu
XM_006715421.2:c.26270G>A (SYNE1)	XP_006715484.1:p.Gly8757Glu
XM_006715423.2:c.*90G>A (SYNE1)	XP_006715486.1:n.*90G>A
XM_006715424.2:c.*90G>A (SYNE1)	XP_006715487.1:n.*90G>A
XM_006715425.2:c.*90G>A (SYNE1)	XP_006715488.1:n.*90G>A
XM_011535641.2:c.26423G>A (SYNE1)	XP_011533943.1:p.Gly8808Glu
XM_011535642.2:c.26411G>A (SYNE1)	XP_011533944.1:p.Gly8804Glu
XM_011535645.2:c.24194G>A (SYNE1)	XP_011533947.1:p.Gly8065Glu
XM_017010608.1:c.26426G>A (SYNE1)	XP_016866097.1:p.Gly8809Glu
XM_017010609.1:c.26426G>A (SYNE1)	XP_016866098.1:p.Gly8809Glu
XM_017010610.1:c.26405G>A (SYNE1)	XP_016866099.1:p.Gly8802Glu
XM_017010611.2:c.26399G>A (SYNE1)	XP_016866100.1:p.Gly8800Glu
XM_017010612.1:c.26348G>A (SYNE1)	XP_016866101.1:p.Gly8783Glu
XM_017010613.1:c.26312G>A (SYNE1)	XP_016866102.1:p.Gly8771Glu
XM_017010614.1:c.26270G>A (SYNE1)	XP_016866103.1:p.Gly8757Glu
XM_017010615.1:c.26159G>A (SYNE1)	XP_016866104.1:p.Gly8720Glu
XM_017010616.1:c.*90G>A (SYNE1)	XP_016866105.1:n.*90G>A
XM_017010617.1:c.*90G>A (SYNE1)	XP_016866106.1:n.*90G>A
XM_017010618.1:c.*90G>A (SYNE1)	XP_016866107.1:n.*90G>A
XM_017010619.1:c.24701G>A (SYNE1)	XP_016866108.1:p.Gly8234Glu
NM_182961.4:c.26279G>A (SYNE1) MANE Select	NP_892006.3:p.Gly8760Glu
NM_001328100.2:c.851-2715C>T (ESR1)	NP_001315029.1:n.851-2715C>T
NM_001347701.2:c.*90G>A (SYNE1)	NP_001334630.1:n.*90G>A
NM_001347702.2:c.2813G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gly938Glu
NM_033071.5:c.26135G>A (SYNE1)	NP_149062.2:p.Gly8712Glu